Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Uaca'

715717

Institutional Source

Beutler Lab

Gene Symbol

Uaca

Ensembl Gene

ENSMUSG00000034485

Gene Name

uveal autoantigen with coiled-coil domains and ankyrin repeats

Synonyms

2700059D02Rik, nucling

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60794542-60880370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60872216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1295 (T1295M)

Ref Sequence

ENSEMBL: ENSMUSP00000062047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050183] [ENSMUST00000214354]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050183
AA Change: T1295M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: T1295M

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
ANK	35	68	2.66e3	SMART
ANK	69	98	1.96e-3	SMART
ANK	102	131	1.65e-1	SMART
ANK	135	164	1.38e-3	SMART
ANK	168	197	3.65e-3	SMART
ANK	201	230	6.26e-2	SMART
Blast:ANK	234	263	7e-9	BLAST
coiled coil region	301	381	N/A	INTRINSIC
coiled coil region	445	626	N/A	INTRINSIC
Pfam:TolA_bind_tri	869	943	4e-11	PFAM
coiled coil region	1009	1382	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214354
AA Change: T1293M

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice display swelling of and inflammatory lesions in the preputial gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	probably benign	Het

Other mutations in Uaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Uaca	APN	9	60872225	missense	probably benign
IGL01751:Uaca	APN	9	60869857	missense	probably damaging	1.00
IGL02868:Uaca	APN	9	60863637	missense	probably damaging	1.00
IGL02977:Uaca	APN	9	60866380	missense	probably benign	0.00
IGL03037:Uaca	APN	9	60840865	missense	probably damaging	1.00
IGL03060:Uaca	APN	9	60869866	missense	probably damaging	1.00
IGL03083:Uaca	APN	9	60863663	missense	probably benign	0.28
IGL03266:Uaca	APN	9	60863407	missense	probably damaging	1.00
IGL03346:Uaca	APN	9	60854318	missense	probably damaging	1.00
Ixtapa	UTSW	9	60870413	missense	probably damaging	0.99
oaxaca	UTSW	9	60871451	missense	probably benign
R0408:Uaca	UTSW	9	60871859	missense	possibly damaging	0.71
R0567:Uaca	UTSW	9	60871381	missense	probably benign	0.01
R0598:Uaca	UTSW	9	60870921	nonsense	probably null
R0603:Uaca	UTSW	9	60871097	missense	possibly damaging	0.60
R0655:Uaca	UTSW	9	60872029	missense	probably benign	0.03
R0707:Uaca	UTSW	9	60848618	splice site	probably benign
R0791:Uaca	UTSW	9	60872059	missense	possibly damaging	0.50
R1466:Uaca	UTSW	9	60854321	missense	possibly damaging	0.88
R1466:Uaca	UTSW	9	60854321	missense	possibly damaging	0.88
R1520:Uaca	UTSW	9	60871381	missense	probably benign	0.30
R1673:Uaca	UTSW	9	60872156	missense	probably damaging	1.00
R1894:Uaca	UTSW	9	60870436	missense	possibly damaging	0.87
R1997:Uaca	UTSW	9	60870341	missense	probably damaging	1.00
R2042:Uaca	UTSW	9	60869891	missense	probably damaging	1.00
R2095:Uaca	UTSW	9	60840843	missense	probably benign	0.00
R2148:Uaca	UTSW	9	60869679	missense	probably damaging	1.00
R2384:Uaca	UTSW	9	60869917	missense	probably damaging	1.00
R3110:Uaca	UTSW	9	60871499	missense	probably damaging	1.00
R3112:Uaca	UTSW	9	60871499	missense	probably damaging	1.00
R4001:Uaca	UTSW	9	60871084	missense	probably benign	0.04
R4155:Uaca	UTSW	9	60871753	missense	probably benign	0.02
R4156:Uaca	UTSW	9	60871753	missense	probably benign	0.02
R4157:Uaca	UTSW	9	60871753	missense	probably benign	0.02
R4410:Uaca	UTSW	9	60869891	missense	probably damaging	1.00
R4674:Uaca	UTSW	9	60854429	missense	possibly damaging	0.94
R4871:Uaca	UTSW	9	60846001	missense	probably damaging	1.00
R5130:Uaca	UTSW	9	60880228	missense	probably damaging	0.96
R5328:Uaca	UTSW	9	60870532	missense	probably benign	0.44
R5358:Uaca	UTSW	9	60871148	missense	probably benign
R5415:Uaca	UTSW	9	60870139	missense	possibly damaging	0.65
R5437:Uaca	UTSW	9	60871451	missense	probably benign
R5647:Uaca	UTSW	9	60872098	missense	probably benign	0.28
R5710:Uaca	UTSW	9	60871811	missense	probably damaging	1.00
R5920:Uaca	UTSW	9	60869603	missense	probably benign	0.19
R5931:Uaca	UTSW	9	60872012	missense	probably damaging	0.97
R5933:Uaca	UTSW	9	60840956	missense	probably damaging	1.00
R5959:Uaca	UTSW	9	60870770	missense	probably damaging	1.00
R6193:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6195:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6242:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6243:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6244:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6274:Uaca	UTSW	9	60850291	splice site	probably null
R6670:Uaca	UTSW	9	60872024	missense	probably benign	0.09
R6883:Uaca	UTSW	9	60869891	missense	probably damaging	1.00
R7011:Uaca	UTSW	9	60870368	missense	probably damaging	1.00
R7111:Uaca	UTSW	9	60871838	missense	probably benign	0.06
R7146:Uaca	UTSW	9	60870413	missense	probably damaging	0.99
R7424:Uaca	UTSW	9	60870110	missense	probably damaging	1.00
R7485:Uaca	UTSW	9	60846000	missense	probably damaging	1.00
R7510:Uaca	UTSW	9	60850205	splice site	probably null
R7688:Uaca	UTSW	9	60874127	missense	probably benign	0.11
R7724:Uaca	UTSW	9	60869905	missense	probably benign	0.24
R7743:Uaca	UTSW	9	60876395	missense	probably damaging	0.99
R8556:Uaca	UTSW	9	60870641	missense	probably damaging	0.97
R8699:Uaca	UTSW	9	60871065	missense	probably damaging	1.00
R8814:Uaca	UTSW	9	60866398	missense	possibly damaging	0.82
R8828:Uaca	UTSW	9	60871570	missense	probably benign	0.00
R9477:Uaca	UTSW	9	60870826	missense	probably benign	0.33
R9509:Uaca	UTSW	9	60872216	missense	possibly damaging	0.88
X0067:Uaca	UTSW	9	60859149	missense	possibly damaging	0.69
Z1177:Uaca	UTSW	9	60874123	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCGAAGTACAAAGCCACC -3'
(R):5'- TCACACACCTGAGGTCAAACTG -3'

Sequencing Primer
(F):5'- GTCGAAGTACAAAGCCACCAAGAAC -3'
(R):5'- CCTGAGGTCAAACTGGCAGG -3'

Posted On

2022-06-15